与FKBP10基因相关的罕见表型的呈现
Elena S Merkuryeva1, Tatiana V Markova1, Vladimir M Kenis2
1Research Centre for Medical Genetics, 115522 Moscow, Russia.
Genes
|June 27, 2024
概括
在FKBP10基因的致病变体导致罕见的遗传疾病,如骨质发育不完美症和布鲁克综合征. 这项研究确定了新的变异,并突出了FKBP10相关疾病的广泛范围及其可变的严重程度.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 临床医学 临床医学
背景情况:
- FKBP10基因中的致病变体与一系列罕见的自体相衰退性疾病有关.
- 这些疾病包括骨质发育不完美 (OI) 类型XI,布鲁克综合征类型I (BS I),以及与先天性关节形状 (AG) 类型的表型.
- 临床表现有很大的不同,这给诊断带来了挑战.
研究的目的:
- 分析患有FKBP10相关表型的患者的临床遗传特征.
- 为了识别已知的和新的致病性FKBP10变体.
- 了解由FKBP10变种引起的疾病的范围.
主要方法:
- 对15名患者进行了基因分析,临床评估和放射学检查.
- 整个外体序列和直接自动化的桑格序列被用于基因分析.
- 现型数据与已识别的FKBP10基因型相关.
主要成果:
- 诊断出15名双性FKBP10变异患者,4名OI型XI,10名BSI,1名AG类型表型.
- 确定了10种致病性FKBP10变体,包括三个新型变体 (c.1373C>T,c.21del,c.831_832insCG) 和一个复发变体 (c.831dup).
- 一个单个变异 (c.1490G>A) 在一个患者中引起了OI XI,在另一个患者中引起了BS I;两个无关联的BS I患者共享同卵性FKBP10和KRT14变异.
结论:
- 与FKBP10相关的疾病表现出显著的表型变异性,这强调了综合遗传和临床评估的重要性.
- 鉴定新型变异扩大了FKBP10.0已知的突变格局.
- 在一些患者中,FKBP10和KRT14变异的同时发生表明潜在的遗传相互作用或复杂的遗传模式.
关键词:
布鲁克综合征是什么意思 布鲁克综合征是什么意思在FKBP10基因.关节形的情况.骨折 骨折 骨折 骨折 在骨质发生不完美 (osteogenesis imperfecta) 是一个不完美的疾病.更多相关视频
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